| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs200017156 |
RCV005896807 |
| Cervical cancer |
Benign; Likely benign |
rs200017156 |
RCV005896808 |
| Dyskeratosis congenita |
Likely benign; Benign; Uncertain significance |
rs746979721, rs422388, rs1890487224 |
RCV005385099 RCV002347962 RCV004488049 |
| Dyskeratosis congenita, autosomal recessive 1 |
Uncertain significance; Likely benign; not provided; Conflicting classifications of pathogenicity; Benign |
rs748193565, rs1890485477, rs1890485969, rs2141228644, rs373843596, rs370894572, rs562412129, rs746979721, rs752083783, rs2141230426, rs1890511080, rs368082745, rs1042150335, rs2510094741, rs121908092, rs1890510805, rs1287418136, rs745494123, rs1890486441, rs2510094842, rs200017156, rs2510094866, rs2510095819, rs146261631, rs422388, rs2510095946, rs2510095881, rs1890510211, rs373678744, rs763635922, rs752872403, rs1890485099, rs1045204, rs886051058, rs761222362, rs112556317, rs1045238, rs1045194, rs72720799, rs756134994, rs775092898, rs141981162, rs765367178, rs1595604667, rs756047969, rs1338953300, rs113289404, rs995405881, rs1890481506, rs983946861, rs1890515011, rs1890516145 View all (37 more) |
RCV001317644 RCV001340074 RCV001352516 RCV001362716 RCV001368203 RCV001362680 RCV001430931 RCV001448685 RCV001967923 RCV001998622 RCV002024627 RCV001936139 RCV003067407 RCV002659714 RCV000004500 RCV002659048 RCV002663720 RCV002745315 RCV002722072 RCV002711704 RCV002900273 RCV002909629 RCV003032816 RCV001084193 RCV000398067 RCV003503940 RCV003504191 RCV003504246 RCV003611849 RCV003612544 RCV003612327 RCV003612336 RCV000398103 RCV000374342 RCV000306780 RCV000331228 RCV000285526 RCV000310239 RCV000538557 RCV000276206 RCV000263141 RCV001116064 RCV000526147 RCV000541648 RCV000806271 RCV000798486 RCV000865303 RCV001435432 RCV001062894 RCV001119013 RCV001120987 RCV001120989 RCV001120990 RCV001117506 RCV001117507 |
| Dyskeratosis Congenita, Recessive |
Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign |
rs528879821, rs554420284, rs2169480 |
RCV000340370 RCV000367184 RCV000352550 |
| Familial cancer of breast |
Benign; Likely benign |
rs141981162, rs200017156 |
RCV005899881 RCV005896806 |
| Gastric cancer |
Benign; Likely benign |
rs200017156 |
RCV005896809 |
| Hereditary cancer-predisposing syndrome |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs72720799, rs200017156, rs756047969 |
RCV002256204 RCV002257809 RCV002256564 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs1045238 |
RCV005893356 |
| Nonpapillary renal cell carcinoma |
Benign |
rs1045238 |
RCV005893354 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 |
Uncertain significance; Conflicting classifications of pathogenicity; no classifications from unflagged records |
rs370894572, rs368082745, rs146261631, rs2510095937 |
RCV005005882 RCV005006250 RCV005409634 RCV003232878 |
| Uterine carcinosarcoma |
Benign; Likely benign |
rs1045238, rs200017156 |
RCV005893357 RCV005896810 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs200017156 |
RCV005896811 |
| Uveal melanoma |
Benign |
rs1045238 |
RCV005893355 |
|